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PULMONOLOGY / CLINICAL RESEARCH
Pulmonary dysfunction in children with Duchenne muscular dystrophy may occur earlier than we thought – analysis using novel methodology based on z-scores
1
Department of Pulmonology and Allergology, Medical University of Gdańsk, Poland
2
Department of Clinical Nutrition, Medical University of Gdańsk, Poland
3
Department of Paediatric Cardiology and Congenital Heart Defects, Medical University of Gdańsk, Poland
4
Department of General Nursery, Medical University of Gdańsk, Poland
Submission date: 2020-02-08
Final revision date: 2020-03-24
Acceptance date: 2020-03-26
Online publication date: 2021-03-21
Corresponding author
Arch Med Sci 2025;21(4):1361-1371
KEYWORDS
TOPICS
ABSTRACT
Introduction:
Respiratory status is one of the main factors affecting the length of survival in patients with Duchenne muscular dystrophy (DMD) – the most common, severe, progressive muscular dystrophy. Aim of the study was (1) to assess pulmonary function in DMD patients using the z-score method and (2) to identify factors affecting it, irrespective of disease progression.
Material and methods:
We evaluated 55 boys (aged 5–18 years) with DMD. The spirometry was performed with: forced vital capacity (FVC), forced expiratory volume in 1 second (FEV1), peak expiratory flow (PEF) analysis as absolute values (in litres or litres/min), % predicted value (%pv) and z-scores (z). Information on the need of ventilation support, ambulatory status and steroid therapy was collected.
Results:
25 (45%) subjects were non-ambulatory, 38 (69%) used steroid therapy. Mean FVC[z] –2.4 ±2.2, FEV1[z] –2.0 ±1.9, PEF[z] –1.5 ±1.3 values significantly decreased with age (r = –0.62/–0.65/–0.55; p < 0.001 respectively), after reaching the peak values in the range 9–12 or 6–9 years of age depending on the analysis method (absolute, %pv or z-score). The results fell below the normal range (z-score < –1.64) at the age of 9.8/10.4/11.6 years and below 80%pv at 10.7/12.2/13.2 for FVC/FEV1/PEF, respectively. The pulmonary function test results were significantly lower in non-ambulant (p < 0.001) and non-steroid patients (p < 0.02).
Conclusions:
Analysis of the pulmonary function test based on z-scores shows that deterioration of pulmonary function in DMD males may occur earlier than we thought when measured by %pv and absolute values. Early loss of ambulation, lack of steroids and delayed steroid therapy are risk factors for worse pulmonary outcomes. To confirm these findings, cohort longitudinal studies are necessary.
Respiratory status is one of the main factors affecting the length of survival in patients with Duchenne muscular dystrophy (DMD) – the most common, severe, progressive muscular dystrophy. Aim of the study was (1) to assess pulmonary function in DMD patients using the z-score method and (2) to identify factors affecting it, irrespective of disease progression.
Material and methods:
We evaluated 55 boys (aged 5–18 years) with DMD. The spirometry was performed with: forced vital capacity (FVC), forced expiratory volume in 1 second (FEV1), peak expiratory flow (PEF) analysis as absolute values (in litres or litres/min), % predicted value (%pv) and z-scores (z). Information on the need of ventilation support, ambulatory status and steroid therapy was collected.
Results:
25 (45%) subjects were non-ambulatory, 38 (69%) used steroid therapy. Mean FVC[z] –2.4 ±2.2, FEV1[z] –2.0 ±1.9, PEF[z] –1.5 ±1.3 values significantly decreased with age (r = –0.62/–0.65/–0.55; p < 0.001 respectively), after reaching the peak values in the range 9–12 or 6–9 years of age depending on the analysis method (absolute, %pv or z-score). The results fell below the normal range (z-score < –1.64) at the age of 9.8/10.4/11.6 years and below 80%pv at 10.7/12.2/13.2 for FVC/FEV1/PEF, respectively. The pulmonary function test results were significantly lower in non-ambulant (p < 0.001) and non-steroid patients (p < 0.02).
Conclusions:
Analysis of the pulmonary function test based on z-scores shows that deterioration of pulmonary function in DMD males may occur earlier than we thought when measured by %pv and absolute values. Early loss of ambulation, lack of steroids and delayed steroid therapy are risk factors for worse pulmonary outcomes. To confirm these findings, cohort longitudinal studies are necessary.
REFERENCES (37)
1.
Emery AE. Population frequencies of inherited neuromuscular diseases – a world survey. Neuromuscul Disord 1991; 1: 19-29.
2.
Hoffman EP, Brown RH, Kunkel LM. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell 1987; 51: 919-28.
3.
Roberto R, Fritz A, Hagar Y, Boice B, Skalsky A, Hwang H, et al. The natural history of cardiac and pulmonary function decline in patients with Duchenne muscular dystrophy. Spine 2011; 36: E1009-17.
4.
Bushby K, Finkel R, Birnkrant DJ, et al. Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care. Lancet Neurol 2010; 9: 177-89.
5.
Birnkrant DJ, Bushby K, Bann CM, et al. Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management. Lancet Neurol 2018; 17: 347-61.
6.
Birnkrant DJ, Bushby K, Bann CM, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management. Lancet Neurol 2018; 17: 251-67.
7.
Bushby K, Finkel R, Birnkrant DJ, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurol 2010; 9: 77-93.
8.
Kurz LT, Mubarak SJ, Schultz P, Park SM, Leach J. Correlation of scoliosis and pulmonary function in Duchenne muscular dystrophy. J Pediatr Orthop 1983; 3: 347-53.
9.
Bach JR. Update and perspective on noninvasive respiratory muscle aids. Part 2: the expiratory aids. Chest 1994; 105: 1538-44.
10.
Finder JD. A 2009 perspective on the 2004 American Thoracic Society statement, “respiratory care of the patient with Duchenne muscular dystrophy.” Pediatrics 2009; 123 Suppl 4: S239-41.
11.
Toussaint M, Chatwin M, Soudon P. Mechanical ventilation in Duchenne patients with chronic respiratory insufficiency: clinical implications of 20 years published experience. Chron Respir Dis 2007; 4: 167-77.
12.
Miller MR, Hankinson J, Brusasco V, et al. Standardisation of spirometry. Eur Respir J 2005; 26: 319-38.
13.
Quanjer PH, Stanojevic S, Cole TJ, et al. Multi-ethnic reference values for spirometry for the 3-95-yr age range: the global lung function 2012 equations. Eur Respir J 2012; 40: 1324-43.
14.
Manzur AY, Kuntzer T, Pike M, Swan A. Glucocorticoid corticosteroids for Duchenne muscular dystrophy. Cochrane Database Syst Rev 2004; 2: CD003725.
15.
Brooke MH, Fenichel GM, Griggs RC, et al. Clinical investigation of Duchenne muscular dystrophy. Interesting results in a trial of prednisone. Arch Neurol 1987; 44: 812-7.
16.
Griggs RC, Moxley RT, Mendell JR, et al. Prednisone in Duchenne dystrophy. A randomized, controlled trial defining the time course and dose response. Clinical Investigation of Duchenne Dystrophy Group. Arch Neurol 1991; 48: 383-8.
17.
Clogg CC, Petkova E, Haritou A. Statistical methods for comparing regression coefficients between models. Am J Soc 1995; 100: 1261-93.
18.
Paternoster R, Brame R, Mazerolle P, Piquero A. Using the correct statistical test for the equality regression coefficients. Criminology 1998; 36: 859-66.
19.
Henricson EK, Abresch RT, Cnaan A, et al. The cooperative international neuromuscular research group Duchenne natural history study: glucocorticoid treatment preserves clinically meaningful functional milestones and reduces rate of disease progression as measured by manual muscle testing and other commonly used clinical trial outcome measures. Muscle Nerve 2013; 48: 55-67.
20.
Mayer OH, Finkel RS, Rummey C, et al. Characterization of pulmonary function in Duchenne muscular dystrophy. Pediatr Pulmonol 2015; 50: 487-94.
21.
Phillips MF, Quinlivan RC, Edwards RH, Calverley PM. Changes in spirometry over time as a prognostic marker in patients with Duchenne muscular dystrophy. Am J Respir Crit Care Med 2001; 164: 2191-4.
22.
Humbertclaude V, Hamroun D, Bezzou K, et al. Motor and respiratory heterogeneity in Duchenne patients: implication for clinical trials. Eur J Paediatr Neurol 2012; 16: 149-60.
23.
Rideau Y, Jankowski LW, Grellet J. Respiratory function in the muscular dystrophies. Muscle Nerve 1981; 4: 155-64.
24.
Gayraud J, Ramonatxo M, Rivier F, Humberclaude V, Petrof B, Matecki S. Ventilatory parameters and maximal respiratory pressure changes with age in Duchenne muscular dystrophy patients. Pediatr Pulmonol 2010; 45: 552-9.
25.
LoMauro A, D’Angelo MG, Aliverti A. Assessment and management of respiratory function in patients with Duchenne muscular dystrophy: current and emerging options. Ther Clin Risk Manag 2015; 11: 1475-88.
26.
Khirani S, Ramirez A, Aubertin G, et al. Respiratory muscle decline in Duchenne muscular dystrophy. Pediatr Pulmonol 2014; 49: 473-81.
27.
Tangsrud S, Petersen IL, Lødrup Carlsen KC, Carlsen KH. Lung function in children with Duchenne’s muscular dystrophy. Respir Med 2001; 95: 898-903.
28.
Hsu JD. The development of current approaches to the management of spinal deformity for patients with neuromuscular disease. Semin Neurol 1995; 15: 24-8.
29.
Shapiro F, Zurakowski D, Bui T, Darras BT. Progression of spinal deformity in wheelchair-dependent patients with Duchenne muscular dystrophy who are not treated with steroids: coronal plane (scoliosis) and sagittal plane (kyphosis, lordosis) deformity. Bone Joint J 2014; 96-B: 100-5.
30.
Mendell JR, Moxley RT, Griggs RC, et al. Randomized, double-blind six-month trial of prednisone in Duchenne’s muscular dystrophy. N Engl J Med 1989; 320: 1592-7.
31.
Biggar WD, Politano L, Harris VA, Deflazacort in Duchenne muscular dystrophy: a comparison of two different protocols. Neuromuscul Disord 2004; 14: 476-82.
32.
Biggar WD, Gingras M, Fehlings DL, Harris VA, Steele CA. Deflazacort treatment of Duchenne muscular dystrophy. J Pediatr 2001; 138: 45-50.
33.
Biggar WD. Long-term benefits of deflazacort treatment for boys with Duchenne muscular dystrophy in their second decade. Neuromuscul Disord 2006; 16: 249-55.
34.
Silversides CK, Webb GD, Harris VA, Biggar DW. Effects of deflazacort on left ventricular function in patients with Duchenne muscular dystrophy. Am J Cardiol 2003; 91: 769-72.
35.
Matthews E, Brassington R, Kuntzer T, Jichi F, Manzur AY. Corticosteroids for the treatment of Duchenne muscular dystrophy. Cochrane Database Syst Rev 2016; 5: CD003725.
36.
Gloss D, Moxley RT, Ashwal S, Oskoui M. Practice guideline update summary: corticosteroid treatment of Duchenne muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology. Neurology 2016; 86: 465-72.
37.
Bonifati MD, Ruzza G, Bonometto P, et al. A multicenter, double-blind, randomized trial of deflazacort versus prednisone in Duchenne muscular dystrophy. Muscle Nerve 2000; 23: 1344-7.
| eISSN: | 1896-9151 |
| ISSN: | 1734-1922 |
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